Human Gene NKX2-2 (ENST00000377142.5) from GENCODE V44
Description: Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA. (from RefSeq NM_002509) RefSeq Summary (NM_002509): The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000377142.5 Gencode Gene: ENSG00000125820.6 Transcript (Including UTRs) Position: hg38 chr20:21,511,017-21,514,064 Size: 3,048 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr20:21,511,923-21,513,669 Size: 1,747 Coding Exon Count: 2
ID:NKX22_HUMAN DESCRIPTION: RecName: Full=Homeobox protein Nkx-2.2; AltName: Full=Homeobox protein NK-2 homolog B; FUNCTION: Acts as a transcriptional activator. Required for the maintenance of NEUROD1 expression in the horomone-producing endocrine cells of the pancreas. May be involved in specifying diencephalic neuromeric boundaries, and in controlling the expression of genes that play a role in axonal guidance. Associates with chromatin at the NEUROD1 promoter region. Binds to a subset of consensus elements within the NEUROD1 promoter (By similarity). SUBUNIT: Interacts with OLIG2 (By similarity). SUBCELLULAR LOCATION: Nucleus (By similarity). DOMAIN: The homeodomain is essential for interaction with OLIG2 (By similarity). SIMILARITY: Belongs to the NK-2 homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NKX22ID44177ch20p11.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95096
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
JD477654 - Sequence 458678 from Patent EP1572962. JD443281 - Sequence 424305 from Patent EP1572962. JD280721 - Sequence 261745 from Patent EP1572962. JD379236 - Sequence 360260 from Patent EP1572962. JD439591 - Sequence 420615 from Patent EP1572962. JD165393 - Sequence 146417 from Patent EP1572962. JD536850 - Sequence 517874 from Patent EP1572962. JD115730 - Sequence 96754 from Patent EP1572962. JD151497 - Sequence 132521 from Patent EP1572962. JD148994 - Sequence 130018 from Patent EP1572962. JD118883 - Sequence 99907 from Patent EP1572962. BC075092 - Homo sapiens NK2 homeobox 2, mRNA (cDNA clone MGC:104145 IMAGE:30915603), complete cds. BC075093 - Homo sapiens NK2 homeobox 2, mRNA (cDNA clone MGC:103984 IMAGE:30915391), complete cds. EU446641 - Synthetic construct Homo sapiens clone IMAGE:100069889; IMAGE:100011850; FLH257056.01L NK2 homeobox 2 (NKX2-2) gene, encodes complete protein. AB464640 - Synthetic construct DNA, clone: pF1KB8925, Homo sapiens NKX2-2 gene for NK2 homeobox 2, without stop codon, in Flexi system. JD526077 - Sequence 507101 from Patent EP1572962. JD411097 - Sequence 392121 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04950 - Maturity onset diabetes of the young
Reactome (by CSHL, EBI, and GO)
Protein O95096 (Reactome details) participates in the following event(s):
R-HSA-210746 Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells R-HSA-186712 Regulation of beta-cell development R-HSA-1266738 Developmental Biology